title: [Molecular genetics of human monogenic diseases].
abstract: The review deals with the analysis of the molecular basis of cytoplasmic genetic determinants and their contribution to inherited disease, as well as with the primary genetic defects underlying some single gene human disorders, such as hepatolenticular degeneration, alpha 1-antitrypsin deficiency, familial hypercholesterolemia, and cystic fibrosis. The results of molecular genetic studies of inherited diseases have been applied to the antenatal and preclinical diagnosis at the levels of mutant genes and anomalous proteins, gene products.
authors.forename: S A
authors.initials: SA
authors.lastname: Neĭfakh
authors.forename: V S
authors.initials: VS
authors.lastname: Gaĭtskhoki
mesh_terms: D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D015870:Gene Expression; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008967:Molecular Biology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012106:Research; D019896:alpha 1-Antitrypsin Deficiency
vernacular_title: Molekuliarnaia genetika monogennykh bolezneĭ cheloveka.